ID   CIRA00150-22
AC   CVCL_C4NY
DR   Wikidata; Q116048768
RX   PubMed=36259166;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:1968; LYST; Simple; p.Val1316fs (c.3944dupC) (p.Thr1315fs*17) (c.3944_3945insC); ClinVar=VCV000180624; Zygosity=Heterozygous (PubMed=36259166).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C2941; Chediak-Higashi syndrome
DI   ORDO; Orphanet_167; Chediak-Higashi syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_C4NX ! CIRA00150-19
SX   Female
AG   7Y
CA   Induced pluripotent stem cell
DT   Created: 15-12-22; Last updated: 19-12-24; Version: 4
//
RX   PubMed=36259166; DOI=10.1111/ped.15390;
RA   Oh S., Niwa A., Nagahashi A., Asaka I., Nakahata T., Saito M.K.;
RT   "iPS cells from Chediak-Higashi syndrome patients recapitulate the
RT   giant granules in myeloid cells.";
RL   Pediatr. Int. 64:e15390.1-e15390.11(2022).
//